Phenotypic spectrum of
            TGFB3
            disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

Luisa Marsili; Eline Overwater; Nadine Hanna; Geneviève Baujat; Marieke J.H. Baars; Catherine Boileau; Dominique Bonneau; Anne Claire Brehin; Yline Capri; Ho Y. Cheung; Eelco Dulfer; Marion Gerard; Laurent Gouya; Yvonne Hilhorst‐Hofstee; Arjan C. Houweling; Bertrand Isidor; Lauriane Le Gloan; Leonie A. Menke; Sylvie Odent; Fanny Morice‐Picard; Clemence Vanlerberghe; Els Voorhoeve; J. Peter Tintelen; Alessandra Maugeri; Pauline Arnaud

doi:10.1111/cge.13700

Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

Clinical Genetics ◽

10.1111/cge.13700 ◽

2020 ◽

Vol 97 (5) ◽

pp. 723-730

Author(s):

Luisa Marsili ◽

Eline Overwater ◽

Nadine Hanna ◽

Geneviève Baujat ◽

Marieke J.H. Baars ◽

...

Keyword(s):

First Report ◽

Phenotypic Spectrum ◽

Homozygous Patient ◽

French Cohort

Review for "Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient"

10.1111/cge.13700/v2/review1 ◽

2019 ◽

Keyword(s):

First Report ◽

Phenotypic Spectrum ◽

Homozygous Patient ◽

French Cohort

Review for "Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient"

10.1111/cge.13700/v2/review3 ◽

2019 ◽

Keyword(s):

First Report ◽

Phenotypic Spectrum ◽

Homozygous Patient ◽

French Cohort

Review for "Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient"

10.1111/cge.13700/v1/review3 ◽

2019 ◽

Keyword(s):

First Report ◽

Phenotypic Spectrum ◽

Homozygous Patient ◽

French Cohort

Review for "Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient"

10.1111/cge.13700/v1/review2 ◽

2019 ◽

Author(s):

Takayuki Morisaki

Keyword(s):

First Report ◽

Phenotypic Spectrum ◽

Homozygous Patient ◽

French Cohort

Decision letter for "Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient"

10.1111/cge.13700/v2/decision1 ◽

2019 ◽

Keyword(s):

First Report ◽

Phenotypic Spectrum ◽

Homozygous Patient ◽

French Cohort

Review for "Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient"

10.1111/cge.13700/v1/review1 ◽

2019 ◽

Keyword(s):

First Report ◽

Phenotypic Spectrum ◽

Homozygous Patient ◽

French Cohort

Review for "Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient"

10.1111/cge.13700/v2/review2 ◽

2019 ◽

Keyword(s):

First Report ◽

Phenotypic Spectrum ◽

Homozygous Patient ◽

French Cohort

Author response for "Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient"

10.1111/cge.13700/v2/response1 ◽

2019 ◽

Author(s):

Luisa Marsili ◽

Eline Overwater ◽

Nadine Hanna ◽

Geneviève Baujat ◽

Marieke J.H. Baars ◽

...

Keyword(s):

Author Response ◽

First Report ◽

Phenotypic Spectrum ◽

Homozygous Patient ◽

French Cohort

Decision letter for "Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient"

10.1111/cge.13700/v1/decision1 ◽

2019 ◽

Keyword(s):

First Report ◽

Phenotypic Spectrum ◽

Homozygous Patient ◽

French Cohort

First report of the mutational and phenotypic spectrum of Hereditary Spherocytosis in Indian patients by targeted resequencing

Canadian Journal of Biotechnology ◽

10.24870/cjb.2017-a71 ◽

2017 ◽

Vol 1 (Special Issue) ◽

pp. 84-84

Author(s):

Anu Aggarwal ◽

Manu Jamwal ◽

Prashant Sharma ◽

Man Updesh Singh Sachdeva ◽

Pankaj Malhotra ◽

...

Keyword(s):

Hereditary Spherocytosis ◽

First Report ◽

Targeted Resequencing ◽

Phenotypic Spectrum ◽

Indian Patients